GREENWOOD, SC – Rich Steet, PhD, Director of Research at the Greenwood Genetic Center (GGC), has been awarded a $40,000 grant to study drug resistance in patients with mucolipidosis (ML), a rare genetic disorder. The funding is provided by Cure Mucolipidosis and the Spanish MPS Society, two nonprofit organizations supporting research on ML and other related disorders.
There are several types of ML with variable features and severity, but common symptoms include skeletal abnormalities, heart and lung issues, and a shortened life span. Patients with ML also often have an abnormal response to many medications, particularly pain medications, requiring much higher doses to achieve relief.
Steet and his colleagues will use a new brain cell model for ML to explain why patients with this rare genetic disorder have this drug resistance.
“The action of any drug in the body depends on its ability to reach the target tissue, bind to or enter into cells, and transmit its intended signal,” said Steet. “When one of those processes doesn’t work properly, or when other factors move the drug out of the cell too quickly, the drug does not have its intended therapeutic effect.”
The funded project will allow GGC researchers to tests several hypotheses about why these drugs are not functioning as intended in patients with ML. The project may also allow the team to improve drug sensitivity by enhancing the recycling of proteins that are responsible for drug action back to the cell surface for better drug responses.
“Impaired responses to medications are an underappreciated problem for patients with ML and other similar disorders,” said Steet, who also serves as Chair of the Mucolipidosis Collaborative Research Network (MCRN), an international consortium of researchers interested in ML and related disorders. “We are hopeful that this research will help us have a clearer understanding of drug resistance in this population, and most importantly, learn how we can enhance their drug responses and ultimately improve the quality of life for patients with ML and similar conditions.”
“We are so grateful for the support of the Spanish MPS Society and Cure Mucolipidosis, two family-led organizations who are dedicated to raising awareness, supporting research, and ultimately finding cures for these disorders,” said Steet. “We are excited to advance this work and contribute to improving the quality of life for all individuals and families impacted by ML.”
About Cure Mucolipidosis
Cure Mucolipidosis is a global organization that is committed to the identification and treatment of Mucolipidosis through education, advocacy and research. Cure Mucolipidosis will form partnerships with Science, Medicine and industry and will work towards finding a cure for people affected by Mucolipidosis globally. Cure Mucolipidosis was established in 2021 to work alongside the MCRN to set a pipeline for the investigation of new modes of therapies that will lead to a cure for conditions including mucolipidosis and sialidosis. https://www.curemucolipidosis.org/